Biochemical characteristics of a Korean patient with mucolipidosis III (pseudo-Hurler polydystrophy).

Antzeko izenburuak

• Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)
  nork: Raas-Rothschild, Annick, et al.
  Argitaratua: (2000)
• Identification of a variant of mucolipidosis III (pseudo-Hurler polydystrophy): a catalytically active N-acetylglucosaminylphosphotransferase that fails to phosphorylate lysosomal enzymes.
  nork: Varki, A P, et al.
  Argitaratua: (1981)
• Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase α/β–Subunits Precursor Gene
  nork: Kudo, Mariko, et al.
  Argitaratua: (2006)
• Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
  nork: Yang, Mina, et al.
  Argitaratua: (2017)
• Altered molecular size of N-acetylglucosamine 1-phosphotransferase in I-cell disease and pseudo-Hurler polydystrophy.
  nork: Ben-Yoseph, Y, et al.
  Argitaratua: (1987)